Spondyloepiphyseal dysplasia tarda: four cases from two families.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients-a brother and a sister and their third cousin-in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet. Their radiographs revealed typical changes for SEDT-PA including platyspondyly, severe osteopenia and dysplastic bone changes. Physical therapy and exercises were performed to all patients in order to decrease in pain and increase or at least maintain joint motion and mobility. Symptomatic relief was achieved in all patients for about a couple of months. The major clinical importance of this rather rare disorder is its similarity to juvenile idiopathic arthritis which has rather different treatment protocol.
Bal
Serpil
S
Department of Physical Medicine and Rehabilitation, Ataturk Research and Training Hospital, Izmir, Turkey.
Kocyigit
Hikmet
H
Turan
Yasemin
Y
Gurgan
Alev
A
Bayram
Korhan Baris
KB
Güvenc
Anil
A
Kocaaga
Zehra
Z
Dirim
Berna
B
D000328:Adult; D001171:Arthritis, Juvenile / Q000175:diagnosis*; D001177:Arthropathy, Neurogenic / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005190:Family; D005260:Female; D005808:Genes, Recessive; D006225:Hand / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D010147:Pain Measurement; D011859:Radiography; D016059:Range of Motion, Articular; D035781:Siblings; D055815:Young Adult